Genetics in medicine : official journal of the American College of Medical Genetics
RNA sequencing offers new diagnostic opportunities in neurodevelopmental disorders: a systematic review.
Jessica Rosenblum, Ellen Rijckmans, Randy Osei, Katrien Janssens, Ligia Mateiu, Catharina Olsen, Katrien Stouffs, Marije Meuwissen, Anna C Jansen
Published: 202510.1016/j.gim.2025.101666
Abstract
PURPOSE: Transcriptomics by way of RNA sequencing (RNAseq) has emerged as a means to increase the diagnostic yield in genetic conditions. In this systematic review, we focus on the contribution of transcriptomics to improve the diagnostic yield in ne…
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